Product Details

SNP ID
rs146921849
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.10:73631995 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCCACGTTGTAGTCTACAGGCTCCC[C/T]AGAGCTCAGCCAGGGAATAGGGGTT
Phenotype
MIM: 605603
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
MYOZ1 PubMed Links

Gene Details

Gene
MYOZ1
Gene Name
myozenin 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_021245.3 1200 Missense Mutation AGG,GGG R279G NP_067068.1
Gene
USP54
Gene Name
ubiquitin specific peptidase 54
There are no transcripts associated with this gene.

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